Multidisciplinary Workup for Stillbirth at a Tertiary-Care Hospital in Northeast Mexico: Findings, Challenges and Perspectives.

Objectives: Stillbirth is an important health problem, and in Mexico, only half of the stillbirths have an explainable cause. The aim of this study was to implement a multidisciplinary workup to identify the etiology and potential risk factors for stillbirth at the Hospital Universitario "Dr. José Eleuterio González".

Molecular Characterization of Associated Pathogens in Febrile Patients during Inter-Epidemic Periods of Urban Arboviral Diseases in Tapachula Southern Mexico.

Emerging and re-emerging vector-borne infections are a global public health threat. In endemic regions, fever is the main reason for medical attention, and the etiological agent of such fever is not usually identified. In this study, non-specific febrile pathogens were molecularly characterized in serum samples from 253 patients suspected of arbovirus infection.

Expression profile of microRNAs in the testes of patients with Klinefelter syndrome.

Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy. A distinctive characteristic of KS is oligozoospermia. Despite multiple studies that have described the natural history of the degenerative process of germ cells in patients with KS, the molecular mechanisms that initiate this process are not well characterized.

Gene Copy Number Quantification of , , and for the Detection of Sex Chromosome Aneuploidies in Neonates.

To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (), vesicle-associated membrane protein 7 (), and in newborns. Gene doses of , , and were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained.

Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants.

Introduction: Molecular analysis in haemophilia is currently used in the diagnosis, treatment and prognosis of this disease. Hispanic populations in Latin America have been of interest to researchers due to the reportedly high prevalence of inhibitors in these patients.

Aim: To perform next-generation sequencing (NGS) in a cohort of Mexican patients with HA and HB and correlate with clinical phenotypes.

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Background: Pathogenic variants (PVs) of BRCA genes entail a lifetime risk of developing breast cancer in 50-85% of carriers. Their prevalence in different populations has been previously reported. However, there is scarce information regarding the most common PVs of these genes in Latin-Americans.

GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.

Objectives: Mutations in the DFNB1 locus are the most common cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) worldwide. The aim of this study was to identify the most frequent mutations in patients with ARNSHL who reside in Northeastern Mexico.

Methods: We determined the nucleotide sequence the coding region of GJB2 of 78 patients with ARNSHL.

A PCR-RFLP method for typing human papillomavirus type 16 variants.

Infection with some types of human papillomavirus (HPV) is required for cervical cancer development, being HPV type 16 (HPV 16) the most common type in premalignant and malignant cervical lesions. DNA sequencing has revealed the existence of intratypic variants of HPV 16 whose genotyping is clinically useful for distinguishing between persistent and recurrent infections. From the epidemiological perspective, the frequency of diverse HPV 16 variants in several populations could correlate with the presence of precursor high-risk lesions in different anatomical locations.